Product Details

SNP ID

rs145571848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:30358055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAAAGCTTCCGGCCTTGAGCCTT[A/C]TTCTCCTGCTTCTGCCGCTCCTTCT

Phenotype

MIM: 604470 MIM: 613620

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CD2BP2 PubMed Links

Gene Details

Gene

CD2BP2

Gene Name

CD2 cytoplasmic tail binding protein 2

There are no transcripts associated with this gene.

Gene

TBC1D10B

Gene Name

TBC1 domain family member 10B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015527.3	2201	Missense Mutation	AAG,AAT	K772N	NP_056342.3
XM_011545789.1	2201	Missense Mutation	AAG,AAT	K667N	XP_011544091.1
XM_011545790.2	2201	UTR 3			XP_011544092.1

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